A55V (p.Ala55Val) variant of NIPBL (Nipped-B-like protein)
A55V (p.Ala55Val) in NIPBL (Nipped-B-like protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cornelia de Lange syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A55V (p.Ala55Val) variant details
- p.Ala55Val
- TOPMed rs1740843039
- gnomAD rs1740843039
- Uncertain significance
- Cornelia de Lange syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Cornelia de Lange syndrome 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available